PEDIATRICS Vol. 79 No. 3 March 1987, pp. 482-483
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Sudden Death Associated With Biotinidase Deficiency

BARBARA K. BURTON 1, E. STEVE ROACH 1, BARRY WOLF 2, and KAREN A. WEISSBECKER 2

1 Departments of Pediatrics and Neurology, Bowman Gray School of Medicine, Winston-Salem, NC 27103
2 Department of Human Genetics, Medical College of Virginia, Richmond, VA 23298

To the Editor.—

We report a case of sudden death in a patient with presumed biotinidase deficiency and emphasize the importance of suspecting this diagnosis in patients who present with compatible clinical findings.

A nonconsanguineous couple was seen for genetic counseling following the death of their first child, a boy, at 23 months of age. A review of the history revealed that the child was normal until 5frac12 months of age when seizures developed which were eventually controlled with carbamazepine.